Blepharophimosis-intellectual disability syndrome, Ohdo type

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

Ptosis

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).


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PMID (PMCID)
12868473
 MALE Infant, Newborn
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R.
Clin Dysmorphol. 2003;12(2):109-13.
Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
10631927
 FEMALE
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
Stoll C.
Genet Couns. 1999;10(4):383-7.
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
10631927
 FEMALE
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome?
Stoll C.
Genet Couns. 1999;10(4):383-7.
A mentally retarded girl with congenital blepharophimosis, ptosis, abnormal teeth and other features consistent with Ohdo syndrome is reported.
9546834
 FEMALE
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?
Rasmussen M, Stromme P.
Clin Dysmorphol. 1998;7(1):61-3.
A mentally retarded girl with congenital blepharophimosis, ptosis, hypoplastic teeth and other traits consistent with Ohdo syndrome is reported.
7519949
 FEMALE Infant
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
Melnyk AR.
Clin Dysmorphol. 1994;3(2):121-4.
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
7519949
 FEMALE Infant
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
Melnyk AR.
Clin Dysmorphol. 1994;3(2):121-4.
The Ohdo syndrome is characterized by blepharophimosis, ptosis, abnormal ears, and mental retardation.